Variant report

Variant	rs7217764
Chromosome Location	chr17:17495766-17495767
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF12	chr17:17493783-17496081	A549	lung:	n/a	n/a
2	EBF1	chr17:17495628-17495915	GM12878	blood:	n/a	n/a
3	RUNX3	chr17:17495545-17495868	GM12878	blood:	n/a	n/a
4	POLR2A	chr17:17495744-17495885	MCF-7	breast:	n/a	n/a
5	POLR2A	chr17:17495708-17495838	A549	lung:	n/a	n/a
6	MYC	chr17:17494367-17495827	MCF10A-Er-Src	breast:	n/a	chr17:17495318-17495328 chr17:17494690-17494699
7	BCL3	chr17:17494186-17496060	A549	lung:	n/a	chr17:17495253-17495266 chr17:17495179-17495192 chr17:17495252-17495265 chr17:17494747-17494760 chr17:17495492-17495505
8	ESRRA	chr17:17494244-17496070	GM12878	blood:	n/a	n/a
9	MAZ	chr17:17494277-17495834	IMR90	lung:	n/a	chr17:17495318-17495328 chr17:17494690-17494699
10	MXI1	chr17:17493375-17496079	IMR90	lung:	n/a	n/a
11	MAX	chr17:17493765-17496079	A549	lung:	n/a	chr17:17495318-17495328 chr17:17494690-17494699
12	FOS	chr17:17495701-17495896	MCF10A-Er-Src	breast:	n/a	n/a
13	SIX5	chr17:17494127-17496047	A549	lung:	n/a	chr17:17495073-17495087 chr17:17495149-17495158 chr17:17495151-17495160 chr17:17495076-17495085 chr17:17495074-17495083
14	POLR2A	chr17:17494454-17495867	Hela-S3	cervix:	n/a	n/a
15	TAF1	chr17:17494504-17495912	A549	lung:	n/a	n/a
16	SP1	chr17:17494357-17496120	A549	lung:	n/a	chr17:17494745-17494757 chr17:17494745-17494757 chr17:17495456-17495468 chr17:17494717-17494727 chr17:17494702-17494711 chr17:17494747-17494756 chr17:17494701-17494711 chr17:17494746-17494755 chr17:17495490-17495499 chr17:17494717-17494727 chr17:17494716-17494728 chr17:17494746-17494755
17	POLR2A	chr17:17494479-17495804	K562	blood:	n/a	n/a
18	FOXA2	chr17:17495605-17496119	A549	lung:	n/a	n/a
19	RELA	chr17:17494519-17495948	GM15510	blood:	n/a	n/a
20	MTA3	chr17:17494211-17496044	GM12878	blood:	n/a	n/a
21	POLR2A	chr17:17494287-17495783	GM12892	blood:	n/a	n/a
22	POLR2A	chr17:17495575-17496037	GM12892	blood:	n/a	n/a
23	EBF1	chr17:17495676-17495926	GM12878	blood:	n/a	n/a
24	POLR2A	chr17:17494443-17495953	MCF10A-Er-Src	breast:	n/a	n/a
25	REST	chr17:17494328-17495911	A549	lung:	n/a	chr17:17495127-17495134 chr17:17494747-17494760
26	POLR2A	chr17:17494408-17495915	MCF-7	breast:	n/a	n/a
27	POLR2A	chr17:17494365-17496424	K562	blood:	n/a	n/a
28	POLR2A	chr17:17494295-17496148	HUVEC	blood vessel:	n/a	n/a
29	EGR1	chr17:17494210-17495835	HCT-116	colon:	n/a	chr17:17495492-17495502 chr17:17494703-17494716 chr17:17494431-17494444 chr17:17494432-17494441 chr17:17495491-17495501 chr17:17495491-17495504 chr17:17495491-17495504 chr17:17495062-17495086 chr17:17495492-17495501 chr17:17494430-17494444 chr17:17494432-17494442 chr17:17495490-17495504 chr17:17494431-17494444 chr17:17495491-17495504 chr17:17494610-17494619 chr17:17495148-17495172 chr17:17494704-17494713 chr17:17494432-17494442 chr17:17494700-17494714 chr17:17494431-17494444 chr17:17495324-17495334 chr17:17495491-17495504 chr17:17494428-17494442
30	POLR2A	chr17:17495699-17495909	A549	lung:	n/a	n/a
31	MAX	chr17:17494272-17495851	Hela-S3	cervix:	n/a	chr17:17495318-17495328 chr17:17494690-17494699
32	POLR2A	chr17:17494323-17495958	MCF10A-Er-Src	breast:	n/a	n/a
33	MAX	chr17:17494284-17495979	MCF-7	breast:	n/a	chr17:17495318-17495328 chr17:17494690-17494699
34	CTCF	chr17:17495760-17495910	K562	blood:	n/a	n/a
35	POLR2A	chr17:17495649-17496060	A549	lung:	n/a	n/a
36	SREBP1	chr17:17493979-17495978	GM12878	blood:	n/a	n/a
37	MAX	chr17:17495695-17496040	K562	blood:	n/a	n/a
38	POLR2A	chr17:17495661-17495927	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr17:17494487-17495837	HCT-116	colon:	n/a	n/a
40	MYC	chr17:17494513-17495771	MCF10A-Er-Src	breast:	n/a	chr17:17495318-17495328 chr17:17494690-17494699
41	SP1	chr17:17494312-17496047	A549	lung:	n/a	chr17:17494745-17494757 chr17:17494745-17494757 chr17:17495456-17495468 chr17:17494717-17494727 chr17:17494702-17494711 chr17:17494747-17494756 chr17:17494701-17494711 chr17:17494746-17494755 chr17:17495490-17495499 chr17:17494717-17494727 chr17:17494716-17494728 chr17:17494746-17494755
42	STAT5A	chr17:17494462-17495783	GM12878	blood:	n/a	chr17:17495070-17495078 chr17:17495070-17495093
43	TAF1	chr17:17494517-17495786	ECC-1	luminal epithelium:	n/a	n/a
44	POLR2A	chr17:17494389-17496001	GM12878	blood:	n/a	n/a
45	POLR2A	chr17:17494348-17496052	SK-N-MC	brain:	n/a	n/a
46	POLR2A	chr17:17494485-17496081	K562	blood:	n/a	n/a
47	TCF7L2	chr17:17494497-17495919	HCT-116	colon:	n/a	n/a
48	POLR2A	chr17:17494434-17495953	HUVEC	blood vessel:	n/a	n/a
49	POLR2A	chr17:17494470-17495903	HepG2	liver:	n/a	n/a
50	GTF2F1	chr17:17495598-17495909	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:52445823..52446496-chr17:17495093..17495920,2	Hela-S3	cervix:
2	chr17:17478519..17480283-chr17:17495399..17496929,2	K562	blood:
3	chr17:17398857..17400412-chr17:17494167..17496293,2	K562	blood:
4	chr17:17495720..17497835-chr17:17499375..17502006,4	MCF-7	breast:
5	chr17:17485277..17487329-chr17:17493832..17495803,2	MCF-7	breast:
6	chr17:17485257..17488708-chr17:17493396..17495920,3	K562	blood:
7	chr17:17398348..17401153-chr17:17494060..17496594,3	MCF-7	breast:
8	chr17:17495233..17498168-chr17:17505537..17510752,5	MCF-7	breast:
9	chr17:17398240..17400896-chr17:17493826..17497836,5	MCF-7	breast:

Variant related genes	Relation type
PEMT	TF binding region
ENSG00000133027	Chromatin interaction
ENSG00000108551	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs11078396	0.85[GIH][hapmap]
rs11078397	0.85[GIH][hapmap]
rs11651378	1.00[CEU][hapmap]
rs11651957	0.98[EUR][1000 genomes]
rs11653424	0.85[GIH][hapmap]
rs11653696	1.00[GIH][hapmap]
rs11656769	1.00[GIH][hapmap]
rs11658311	1.00[CEU][hapmap];0.80[YRI][hapmap]
rs11658944	1.00[CEU][hapmap];0.85[GIH][hapmap]
rs11659047	1.00[CEU][hapmap];1.00[GIH][hapmap];0.87[EUR][1000 genomes]
rs28454257	0.95[EUR][1000 genomes]
rs28583584	0.87[EUR][1000 genomes]
rs28652618	0.87[EUR][1000 genomes]
rs28715719	0.95[EUR][1000 genomes]
rs28884183	0.95[EUR][1000 genomes]
rs56030759	0.85[EUR][1000 genomes]
rs56044345	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56177028	0.95[EUR][1000 genomes]
rs56327101	0.95[EUR][1000 genomes]
rs57638011	0.95[EUR][1000 genomes]
rs62066215	0.85[EUR][1000 genomes]
rs62066216	0.81[EUR][1000 genomes]
rs7210978	1.00[CEU][hapmap]
rs7214988	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs7215055	1.00[CEU][hapmap]
rs7219568	1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs7222358	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap]
rs7222759	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7224725	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.87[EUR][1000 genomes]
rs73978990	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8064558	1.00[CEU][hapmap]
rs8070432	1.00[CEU][hapmap];0.92[YRI][hapmap];0.83[EUR][1000 genomes]
rs8071007	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8074981	0.95[EUR][1000 genomes]
rs8076601	0.95[EUR][1000 genomes]
rs8077671	0.95[EUR][1000 genomes]
rs8078513	1.00[CEU][hapmap]
rs897456	1.00[CEU][hapmap];0.85[GIH][hapmap]
rs9889584	1.00[CEU][hapmap]
rs9896285	1.00[CEU][hapmap];0.83[GIH][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs9897362	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.87[YRI][hapmap]
rs9904004	0.81[EUR][1000 genomes]
rs9905032	1.00[CEU][hapmap];0.88[YRI][hapmap]
rs9905191	1.00[CEU][hapmap]
rs9910075	0.85[GIH][hapmap]
rs9910151	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs9910747	1.00[CEU][hapmap];1.00[MEX][hapmap]
rs9911823	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs9914118	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9944423	1.00[CEU][hapmap];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv907731	chr17:17358004-17504856	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv907744	chr17:17404586-17504856	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv907747	chr17:17412032-17504856	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv907748	chr17:17412032-17782404	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
5	nsv1065270	chr17:17430116-17823086	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
6	nsv543236	chr17:17430116-17823086	Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
7	nsv1062052	chr17:17461050-17507199	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv543237	chr17:17461050-17507199	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv833383	chr17:17464635-17509138	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv833384	chr17:17491483-17645648	Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17493800-17496000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr17:17493800-17496200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr17:17493800-17496400	Active TSS	Fetal Brain Female	brain
4	chr17:17493800-17496600	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr17:17493800-17496600	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr17:17494000-17495800	Bivalent/Poised TSS	HepG2	liver
7	chr17:17494000-17496000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr17:17494000-17496000	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr17:17494000-17496200	Active TSS	H9 Cell Line	embryonic stem cell
10	chr17:17494000-17496400	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr17:17494000-17496400	Active TSS	H1 Cell Line	embryonic stem cell
12	chr17:17494000-17496400	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr17:17494200-17495800	Active TSS	Fetal Kidney	kidney
14	chr17:17494200-17496000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr17:17494200-17496000	Active TSS	Aorta	Aorta
16	chr17:17494200-17496000	Active TSS	Hela-S3	cervix
17	chr17:17494200-17496200	Active TSS	A549	lung
18	chr17:17494200-17496400	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr17:17494200-17496400	Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr17:17494200-17497000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr17:17494400-17495800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr17:17494400-17495800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr17:17494400-17495800	Active TSS	Muscle Satellite Cultured Cells	--
24	chr17:17494400-17495800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr17:17494400-17495800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr17:17494400-17495800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr17:17494400-17495800	Active TSS	Colon Smooth Muscle	Colon
28	chr17:17494400-17495800	Active TSS	Esophagus	oesophagus
29	chr17:17494400-17495800	Active TSS	Left Ventricle	heart
30	chr17:17494400-17495800	Active TSS	Lung	lung
31	chr17:17494400-17495800	Active TSS	Ovary	ovary
32	chr17:17494400-17495800	Active TSS	Pancreas	Pancrea
33	chr17:17494400-17495800	Active TSS	Right Ventricle	heart
34	chr17:17494400-17495800	Active TSS	Sigmoid Colon	Sigmoid Colon
35	chr17:17494400-17495800	Active TSS	Small Intestine	intestine
36	chr17:17494400-17495800	Active TSS	Dnd41	blood
37	chr17:17494400-17495800	Active TSS	NHDF-Ad	bronchial
38	chr17:17494400-17496000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr17:17494400-17496000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr17:17494400-17496000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
41	chr17:17494400-17496000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr17:17494400-17496000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr17:17494400-17496200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr17:17494400-17496200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr17:17494400-17496200	Active TSS	GM12878-XiMat	blood
46	chr17:17494400-17496200	Active TSS	NHLF	lung
47	chr17:17494400-17496400	Active TSS	HUES6 Cell Line	embryonic stem cell
48	chr17:17494400-17496400	Active TSS	Brain Angular Gyrus	brain
49	chr17:17494400-17496400	Active TSS	Psoas Muscle	Psoas
50	chr17:17494600-17495800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung

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